Differential Diagnosis Of Neonates Research Articles

Citrin deficiency-The East-side story.

Citrin deficiency (CD) is a complex metabolic condition due to defects in SLC25A13 encoding citrin, an aspartate/glutamate carrier located in the mitochondrial inner membrane. The condition was first described in Japan and other East Asian countries in patients who were thought to suffer from classical citrullinemia type 1, and was therefore classified as a urea cycle disorder. With an improved understanding of its molecular basis, it became apparent that a defect of citrin is primarily affecting the malate-aspartate shuttle with however multiple secondary effects on many central metabolic pathways including glycolysis, gluconeogenesis, de novo lipogenesis and ureagenesis. In the meantime, it became also clear that CD must be considered as a global disease with patients identified in many parts of the world and affected by SLC25A13 genotypes different from those known in East Asian populations. The present short review summarizes the (hi)story of this complex metabolic condition and tries to explain the relevance of including CD as a differential diagnosis in neonates and infants with cholestasis and in (not only adult) patients with hyperammonemia of unknown origin with subsequent impact on the emergency management.

Beta Thalassemia Presenting with Neonatal Cholestasis and Extensive Hemosiderosis: A Case Report

Neonatal cholestasis is caused by various forms of liver injury and has a complex etiological background. Among these, cases of severe cholestasis due to primary hemolytic disease are rare. Herein, we report a case in which thalassemia-induced severe hemolysis caused bile duct injury by hemosiderosis, with cholestasis occurring shortly after birth and lasting for >4 months. In addition, complete recovery of liver pathology was observed both biochemically and histologically. Hence, clinicians should consider hemolytic disease as a rare cause of neonatal cholestasis in the differential diagnosis of neonates as well as the advisability of conservative treatment based on case progression.

Dengue Fever Presenting As Acute Febrile Illness In Neonates: A Case Series From Pakistant.

Dengue fever is a mosquito-borne disease caused by flavivirus. It primarily infects people living in tropical and subtropical areas and can be transmitted vertically or horizontally to new-borns. We discuss the clinical spectrum, treatment, and outcomes of five neonates who presented with dengue fever at Aga Khan Hospital for Women in Karimabad, Karachi, Pakistan, during the 2021 post- monsoon season (October to December). Dengue infection was confirmed via positive NS1 antigen test. All new-borns had fever, flushing, and thrombocytopenia. Capillary leak syndrome and haemorrhagic complications occurred in one case. Two babies required oxygen support, with one mortality. Due to the severity of the disease in this population, we suggest that dengue fever should be evaluated as a differential diagnosis in neonates with sepsis and thrombocytopenia, especially in high-risk or endemic areas. Critical management strategies for neonatal dengue fever are the same as those for other paediatric patients and include judicious use of intravenous fluids and inotropes.

Spontaneous gallbladder perforation in a full-term neonate: A case report

Background: Spontaneous gall bladder perforation is an uncommon event among neonates. The etiology of perforated gall bladder in this pediatric age group is idiopathic. Only 9 cases are available in literature up till 2019. Case Presentation: We are reporting a case of spontaneous gall bladder perforation in a 15-day-old neonate who presented with vomiting, abdominal distension, and jaundice. The gall bladder was perforated near the fundus. Per-operative cholangiogram showed the normal passage of contrast. Open cholecystectomy was performed. No postoperative biliary complications were observed. Conclusion: Though Gall bladder perforation of spontaneous nature is rare but should be kept in the differential diagnosis in neonates who present with jaundice, abdominal distension, and acute abdomen.

Congenital heterotopic gastrointestinal duplication cyst of the face: a rare case report

Gastrointestinal duplication (GDC) cysts have various synonyms; choristoma, enterocystoma, and duplication cyst. They are infrequent congenital benign lesions diagnosed mainly in children in the first decade of life, comprising approximately less than 5% of the pediatric population with a predilection for the male sex. It is exceedingly rare in the oral cavity but it is possible, particularly on the tongue, floor of the mouth, and pharynx. From 1895 until 1994, 30 cases of this lesion in the oral cavity were reported. Nowadays, none of the authors reported a GDC in the facial region. We report an exceptional case of heterotopic gastrointestinal duplication cysts (HGDC) in the facial region of a 13 -years -old male teenager who was referred to our medical department for an evaluation of a painless progressive facial asymmetry. In the first instance, the ultrasound facial soft tissue was made with a 6.5 MHz convex transducer, reporting a big anechoic image with regular borders to a 60 x 26 x 56 mm diameter with a 46cc approximate volume. Following this, a non-contrast magnetic resonance image was executed with an open Philips PanoramaⓇ machine performed at 3T, reporting a hyperintense image in T2-weighted (repetition time msec/echo time msec: 5,500/112) sagittal sequence and FLAIR-weighted (5,714/80) axial sequence; and an isointense image in T1-weighted (24/80) coronal sequence to 54 x 30 x 51 mm diameter compatible with space occupant lesion with interior walls. A complete tumor resection was achieved under balanced general anesthesia, and the specimen was sent for histological examination. Microscopic examination showed a cystic cavity lined mostly by mucous secretory gastrointestinal epithelium and other areas by stratified squamous epithelium. The cystic wall was composed of fibrous connective tissue and contains abundant gastric cells. Its deepest portion exhibits a smooth muscle layer. In summary, HGDC is an unusual congenital head and neck lesion, but it should be considered in the differential diagnosis of neonates and children. The diagnosis of gastrointestinal tract duplications may be suggested by imaging studies; however, the correct diagnosis is defined by histopathologic analysis. Due to the risk of destruction potential and malignant transformation, HGDC should be treated surgically by complete excision.

Neonatal Toxic Shock Syndrome-like Exanthematous Disease: A Report of Two Cases.

Neonatal toxic shock syndrome (TSS)-like exanthematous disease is characterized by exanthema, thrombocytopenia and fever in neonates infected with TSS toxin-1 producing Staphylococcus aureus . Although the disease is rare, it should be known to neonatologists as it represents a differential diagnosis in neonates with exanthema and thrombocytopenia. Two presented neonates with Neonatal TSS-like exanthematous disease are rare European cases of this specific neonatal disease.

Prevalence of anti-leptospiral IgM and detection of pathogenic Leptospira species DNA in neonates presenting with clinical sepsis in Southwestern Uganda

BackgroundLeptospirosis is an emerging neglected zoonotic disease that presents with nonspecific signs/symptoms and it can be mistaken for other diseases. Owing to limited diagnostic capacity and unawareness, the data on human leptospirosis particularly in neonates are scarce in many sub-Saharan countries. It has been underreported hindering preventive and control measures in place. The study aimed at determining prevalence of leptospirosis as a cause of febrile illness in neonates using IgM ELISA and a quantitative real-time PCR (qPCR).MethodsThis was a descriptive cross-sectional study that included 103 neonatal sepsis cases whose parents/legal guardians gave informed consent. The data on demographic and clinical characteristics were collected using structured data collection form. EDTA whole blood sample was collected from the neonates by trained study nurses. From the samples, IgM ELISA was done using automated analyzers, DNA extracted and qPCR was performed using primers for LipL32, specific for the pathogenic leptospires.ResultsThe prevalence of anti-leptospiral IgM among the neonates as determined by ELISA was 4.3%, where all of them presented with lethargy and poor feeding. No pathogenic Leptospira species DNA was amplified by qPCR.ConclusionsEvidence of leptospirosis was demonstrated in neonatal sepsis cases in this study. The findings suggest considerations of leptospirosis in the differential diagnosis of neonates with sepsis. More data are needed on the real epidemiology, clinical features, and burden of leptospirosis in neonates. There is need to include intermediate pathogenic species of Leptospira in the diagnostic qPCR assays.

Endoscopic Repair of Nasopharyngeal Glial Heterotopia in a Neonate with Persistent Craniopharyngeal Canal: A Case Report.

A case of nasopharyngeal glial heterotopia with persistent craniopharyngeal canal is being reported. These lesions though rare should be considered in the differential diagnosis of neonates who present with nasal obstruction. Careful radiological evaluation for a persistent craniopharyngeal canal and differentiating the nasopharyngeal mass from brain tissue is of paramount importance.

Congenital pyloric atresia with epidermolysis bullosa: A case series

Background: Carmi syndrome is the name given to the association of congenital pyloric atresia and epidermolysis bullosa. It has a high mortality. Case series: We report 3 neonates with features of multiple skin blisters and a classical X-ray picture of a single bubble appearance. Two of them underwent surgery while 1 succumbed to sepsis in the pre-operative period. One baby had delayed mortality and the other is doing well in follow-up. Conclusions: Carmi syndrome should be kept as a differential diagnosis in neonates with skin blisters and feed intolerance. Early recognition with prompt medical and surgical management may contribute to a successful outcome.

Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.

Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by early onset retinal dystrophy, renal anomalies, postaxial polydactyly, and cognitive impairment with considerable phenotypic heterogeneity. BBS results from biallelic pathogenic variants in over 20 genes that encode key proteins required for the assembly or primary ciliary functions of the BBSome, a heterooctameric protein complex critical for homeostasis of primary cilia. While variants in BBS1 are most frequently identified in affected individuals, the renal and pulmonary phenotypes associated with BBS1 variants are reportedly less severe than those seen in affected individuals with pathogenic variants in the other BBS-associated genes. We report an infant with severe renal dysplasia and lethal pulmonary hypoplasia who was homozygous for the most common BBS1 pathogenic variant (c.1169T > G; p.M390R) and also carried a predicted pathogenic variant in TTC21B (c.1846C > T; p.R616C), a genetic modifier of disease severity of ciliopathies associated with renal dysplasia and pulmonary hypoplasia. This report expands the phenotypic spectrum of BBS with the first infant with lethal neonatal respiratory failure associated with biallelic, pathogenic variants in BBS1 and a monoallelic, predicted pathogenic variant in TTC21B. BBS should be considered among the ciliopathies in the differential diagnosis of neonates with renal dysplasia and severe respiratory failure.

Neonates with SARS-CoV-2 infection: spectrum of disease from a prospective nationwide observational cohort study.

Coronavirus disease 2019 (COVID-19) can be more severe in infants than in older children. To date, only a few case series have reported data on neonates with COVID-19, including mostly asymptomatic neonates who were tested because of exposure to maternal SARS-CoV-2 infection. This study summarises nationwide epidemiological data, clinical characteristics, treatment and outcomes of neonates presenting with symptomatic SARS-CoV-2 infection. Data were prospectively collected through the Swiss Paediatric Surveillance Unit from hospitalised neonates with laboratory-confirmed SARS-CoV-2 infection (positive polymerase chain reaction on a respiratory sample) from 1 March 2020 to 31 September 2021. All 29 paediatric hospitals in Switzerland reported cases. In total, 73 neonates were included; 7 (10%) were preterm. The median age at presentation was 17 days (interquartile range [IQR] 11-23); 40 (55%) were female. The majority of neonates (64, 88%) were admitted from home. Nine (12%) had a pre-existing medical condition. Overall, the most common symptom recorded was fever in 52 (71%), followed by rhinorrhoea or nasal congestion in 32 (44%) and respiratory distress in 19 (26%). Twenty (27%) neonates presented with fever without a source. Seven (10%) neonates were admitted to an intensive care unit (5 for respiratory failure and 2 for monitoring). One (1%) neonate required inotropic support. The median length of hospital stay in term neonates was 4 days (IQR 3-5). Two (3%) were treated with corticosteroids and 1 (1%) with remdesivir. In total, 60 (82%) neonates had contact with a known or suspected SARS-CoV-2 index case. All of the 71 neonates for whom data were available were discharged to their homes without symptoms. In neonates, COVID-19 mainly presents with fever, and symptoms of upper and lower respiratory tract infection. The clinical course is mostly mild, requiring a short period of hospitalisation. COVID-19 needs to be added as a differential diagnosis in neonates who present with fever without a source. However, the presence of SARS-CoV-2 should not deter from the search for a serious bacterial infection. Further data from surveillance studies are needed to better understand COVID-19 in neonates, guide therapy and to evaluate whether the clinical spectrum is changing with new SARS-CoV-2 variants.

Epidemiology and Outcomes of Neonatal Hemophagocytic Lymphohistiocytosis.

ObjectivesNeonatal hemophagocytic lymphohistiocytosis (HLH) is a rare entity. The objective of the study was to describe the prevalence, clinical characteristics, interventions and outcomes of neonates diagnosed with HLH in the United States.MethodsA retrospective analysis of 2009, 2012, and 2016 Kids' Inpatient Database was performed. Neonates discharged/died with a diagnosis of HLH were identified and analyzed.ResultsAmong 11,130,055 discharges, 76 neonates had a diagnosis of HLH. Fifty-two percent (95% CI: 38.6–63.6) were males and 54% (95% CI: 39.7–68.5) were white. Herpes simplex infection was present in 16% (95% CI: 9.2–28.1). 24.4% (95% CI: 14.5–37.9) received chemotherapy, 11.5% (95% CI: 5.2–23.6) IVIG and 3.6% (95% CI: 0.8–14.4) allogenic hemopoietic stem cell transplantation. Organ dysfunction was commonly seen and severe sepsis was documented in 26.6% (95% CI: 16.4–39.9). Median LOS was 16 (IQR 7–54) days. The mortality was 42% (95% CI: 30.8–55).ConclusionsHLH is a rare diagnosis and carries a high mortality in neonates. Herpes simplex virus is the most common infection associated with neonatal HLH. HLH should be considered in the differential diagnosis in neonates presenting with multi-organ dysfunction or sepsis.

Apendicitis aguda perforada con diagnóstico prequirúrgico y hernia inguinal bilateral en recién nacido de pretérmino

La apendicitis aguda neonatal es una patología de muy baja frecuencia, con escasos reportes en los últimos 30 años. La clínica e imágenes son inespecíficas, diagnosticándose la mayoría de las veces durante el procedimiento quirúrgico.Objetivo: Presentar un caso de apendicitis aguda perforada en paciente prematura, con diagnóstico prequirúrgico y resolución laparoscópica, asociada a aparición posterior de hernia inguinal.Caso Clínico: Recién nacido femenino de 34 semanas que a los 17 días de vida presentó fiebre, irritabilidad y aumento del residuo lácteo. Al examen físico destacaba distensión y sensibilidad del abdomen y tanto la radiografía como ecografía abdominales eran compatibles con apendicitis aguda perforada, por lo cual ingresó a pabellón para laparoscopía. Confirmado el diagnóstico, se realizó apendicectomía. Dos semanas después en consulta ambulatoria, se evidenció y confirmó con ecografía una hernia inguinal bilateral que se corrigió quirúrgicamente.Conclusión: La apendicitis aguda debe considerarse dentro de los diagnósticos diferenciales en neonatos con clínica de abdomen agudo, principalmente en prematuros. En este caso, la ecografía permitió realizar el diagnóstico pre-operatorio. La posible asociación con hernia inguinal, debiera motivar a examinar siempre conductos inguinales durante la evaluación con imágenes y en el procedimiento quirúrgico.

Providing insight into the incubation period of Mycobacterium ulcerans disease: two case reports

BackgroundBuruli ulcer caused by Mycobacterium ulcerans is endemic in parts of West Africa and is most prevalent among the 5–15 years age group; Buruli ulcer is uncommon among neonates. The mode of transmission and incubation period of Buruli ulcer are unknown. We report two cases of confirmed Buruli ulcer in human immunodeficiency virus-unexposed, vaginally delivered term neonates in Ghana.Case presentationPatient 1: Two weeks after hospital delivery, a baby born to natives of the Ashanti ethnic group of Ghana was noticed by her mother to have a papule with associated edema on the right anterior chest wall and neck that later ulcerated. There was no restriction of neck movements. The diagnosis of Buruli ulcer was confirmed on the basis of a swab sample that had a positive polymerase chain reaction result for the IS2404 repeat sequence of M. ulcerans. Patient 2: This patient, from the Ashanti ethnic group in Ghana, had the mother noticing a swelling in the baby’s left gluteal region 4 days after birth. The lesion progressively increased in size to involve almost the entire left gluteal region. Around the same time, the mother noticed a second, smaller lesion on the forehead and left side of neck. The diagnosis of Buruli ulcer was confirmed by polymerase chain reaction when the child was aged 4 weeks. Both patients 1 and 2 were treated with oral rifampicin and clarithromycin at recommended doses for 8 weeks in addition to appropriate daily wound dressing, leading to complete healing. Our report details two cases of polymerase chain reaction-confirmed Buruli ulcer in children whose lesions appeared at ages 14 and 4 days, respectively. The mode of transmission of M. ulcerans infection is unknown, so the incubation period is difficult to estimate and is probably dependent on the infective dose and the age of exposure. In our study, lesions appeared 4 days after birth in patient 2. Unless the infection was acquired in utero, this would be the shortest incubation period ever recorded.ConclusionsBuruli ulcer should be included in the differential diagnosis of neonates who present with characteristic lesions. The incubation period of Buruli ulcer in neonates is probably shorter than is reported for adults.

Infantile hemangioma as cause of neonatal gastrointestinal bleeding

Abstract Introduction Gastrointestinal infantile hemangiomas (IHs) are extremely rare and represent a diagnostic challenge, especially in newborns for the limited applicability of diagnostic approaches. We report two cases of neonates with gastrointestinal bleeding from intestinal hemangioma and a literature review of gastrointestinal IHs. Case 1: Full-term baby, asymptomatic at birth. On the seventh day of life she experienced failure to thrive, weight loss and hypotonus followed by melena and vomit. The imaging showed an intestinal vascular anomaly. We performed exploratory laparotomy and intestinal resection to remove the lesion. No complication occurred. Case 2: A 20-day old girl had melena and severe anaemia. The scintigraphic evaluation excluded gastric heterotopia. We opt for explorative surgery and we performed a laparoscopy that showed a congested and oedematous intestinal segment that was resected. Post-operative course was uneventful. Discussion Gastrointestinal IHs may cause intractable bleeding, intussusception and intestinal perforations with bad prognosis. A prompt and accurate diagnosis is vital but not always easy. Colour-coded Duplex Scan are a good first-line imaging, MRI and CT give a better definition but the latter exposes to radiation. In the “era” of minimally invasive surgery, laparoscopy can have a role in the management of patients with gastrointestinal IHs. Conclusions Gastrointestinal IHs should be considered in the differential diagnosis of neonates with anemia and gastro-intestinal bleeding. In selected cases, the minimally invasive approach permits diagnosis and treatment.

Anomalous pancreatic ductal system allowing distal bowel gas with duodenal atresia

Abstract A twelve-day-old male presented with non-bilious, non-bloody emesis 2 hours after feeding since two-days-old, with flatus and light stools since birth. An upper gastrointestinal series (UGI) at an outside institution was reported as normal. Abdominal radiographs demonstrated distal bowel gas with proximal duodenal dilation. Abdominal ultrasound demonstrated gas in the main pancreatic duct and a dilated, fluid-filled duodenum. An UGI revealed duodenal atresia with enteric bypass by congenital anomaly of the pancreaticobiliary system. At thirteen days old the patient underwent uncomplicated duodenoduodenostomy. The post-operative course was uneventful and the patient subsequently tolerated oral feeds. Bypass of the atretic duodenal segment through an anomalous pancreatic ductal system is a rare anomaly described in the literature in only a handful of cases. This case report highlights the importance of considering duodenal atresia and pancreaticobiliary enteric bypass in the differential diagnosis of neonates presenting with partial duodenal obstruction. On ultrasound, the presence of gas in the biliary tree or pancreatic duct should alert the physician to the possibility of duodenal atresia with congenital pancreaticobiliary duct anomalies that allow for bypass of enteric contents, including air, into more distal bowel, thereby creating a gas pattern aptly described as double bubble with distal gas.

Severe hypotonia and respiratory failure in a one month old boy with complete recovery

Case report: A one-month old boy who was referred to Paediatric Intensive Care Unit (PICU) for hypotonia with respiratory failure during a seasonal epidemic of bronchiolitis. Medical history: Full term birth, no tonus or growth abnormalities were noticed in the first month. He had an exclusive breastfeeding. Within 48 hours he developed hypotonia, thin cry, hypoventilation and diminution of voluntary movements, but with normal state of consciousness. He was admitted in (PICU) and initially got non invasive ventilation. Three days later, he was intubated for a dysautonomic syndrome with severe bradycardia. Assessment: Biological (ionogram, blood count, infectious investigation) and radiological (cerebral sonography, cerebro-medullar MRI) were normal. Genetic investigations for congenital hypotonia (spinal amyotrophy, Steinert syndrome, Prader Willi Syndrome, ACPA) was negative. The electro-neuro-myogram revealed a presynaptic neuromuscular bloc. At day 14 a botulinum toxin B was found in the feces. Treatment and outcome: The treatment was firstly symptomatic with enteral nutrition, and mechanical respiratory support. A specific treatment with equine anti-toxin immunoglobulin was proposed to enhance the recovery at day 15. At day 16 he was extubated, at day 20 non invasive ventilation was stopped and he was discharged from the hospital at day 42. Conclusion: Botulism has to be considered as a differential diagnosis in neonates or infant's hypotonia. Early diagnosis gives the possibility of a specific treatment to reduce the time to recover from paralysis and to provide reassurance to the family for the prognosis.

Congenital Adrenocortical Tumor in an Asymptomatic Neonate with Positive Newborn Screen for Congenital Adrenal Hyperplasia: A Case Report

Adrenocortical tumors (ACTs) are rare in childhood, particularly in the neonatal period. ACTs in children usually secrete hormones that can cause virilization, precocious puberty, or Cushing syndrome. However, in many cases the diagnosis is delayed because of the generally healthy appearance of the child and the lack of a palpable abdominal mass. ACTs can also be misdiagnosed as congenital adrenal hyperplasia (CAH) especially if 17-hydroxyprogesterone (17-OHP) is elevated. We describe a case of neonatal ACT diagnosed in an asymptomatic newborn with positive/elevated 17-OHP on newborn screening. On examination there were no signs of virilization, Cushing syndrome, hemihypertrophy, or hypertension, and there was no palpable abdominal mass. While awaiting confirmatory results of an elevated 17-OHP level, an abnormally low adrenocorticotropic hormone level was noted. Abdominal ultrasound, obtained to evaluate the adrenal glands, showed a right adrenal mass with peripheral calcification. MRI revealed a 3.6 x 3.5 x 3.4 cm heterogeneously enhancing ovoid mass in the right adrenal gland. Diagnosis of an ACT was also confirmed by laboratory data, and histopathology of the tumor. Surgical resection was safely performed with perioperative steroid replacement. Genetic analysis of CYP21A2 and CYP11B1 genes was negative. A germ-line point mutation in the TP53 region was discovered, suggesting Li-Fraumeni syndrome. ACTs should be considered in the differential diagnosis of neonates with elevated 17-OHP detected by newborn screening for CAH. Adrenal ultrasound is recommended in cases of significantly abnormal CAH screen results to rule out or treat adrenal neoplasms.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Case Study: Hoyeraal-Hreidarsson syndrome (HHS; MIM #305000, Xq28) is a rare X-linked recessive multisystem disorder characterized by intrauterine growth retardation, microcephaly, severe developmental delay, cerebellar hypoplasia, and bone marrow failure. We report the clinical course of a male neonatal floppy infant with progressive bone marrow failure. The infant was born after 33 weeks' of gestation by secondary cesarean after severe intrauterine growth retardation and anhydramnios. Because of the primary asphyxia (APGAR score 1/6/6) and a neonatal infection, the infant was ventilated for 5 days. A thrombocytopenia was present from the beginning, while a progressive pancytopenia developed over the following months. At the age of 3 months, the bone marrow was aplastic with scattered hemophagocytosis raising the suspicion of a connatal primary hemophagocytic lymphohistiocytosis. Immunomodulatory therapy with corticosteroids and cyclosporine A had no effect on the progressive bone marrow failure. Neurologically, the child was born with a severe microcephaly with primary cerebellar hypoplasia. Clinically, he demonstrated a developmental delay and progressive dysphagia. The brain MRI at the age of 4 and 8 months revealed severe brain atrophy with predominant pontocerebellar hypoplasia, pronounced delay in myelination, and multiple small infection-like subcortical white matter calcifications in the occipital region. Because of the radiomorphological phenotype, the differential diagnosis of a pseudotorch syndrome was discussed. At the age of 7 months a leukoplakia was seen on the tongue, characteristic of Hoyeraal-Hreidarsson syndrome. The child died at the age of 8 months in acute respiratory failure. Mutational analyses revealed a novel hemizygous variant c.1072 T> C, p.C358G in exon 11 of the DKC1 gene. Offering the correct diagnosis in this rare disease with a fulminant clinical course is important to offer genetic counseling to the family. Hoyeraal-Hreidarsson syndrome is a rare but important differential diagnosis in neonates with severe neurological and hematological symptoms.

Vallecular cysts: a differential diagnosis to consider for neonatal stridor and failure to thrive

Vallecular cysts are an important differential diagnosis in neonates and infants who present with stridor, respiratory distress and failure to thrive.